Tuesday, July 26, 2011

~ McCune-Albright Syndrome and Fibrous Dysplasia ~

I was looking over my posts so far on this blog and I realized if this is a blog about me and about my disability and being disabled, I should probably at least mention my disability! I was born with McCune-Albright Syndrome(MAS) which is a rare disease that affects the bones, the endocrine system and the color (pigmentation) of the skin. It's also possible that various other systems in the body are affected as well. There hasn't been all that much research into this disease so it's difficult to determine all the areas of the body it might impact. MAS is a genetic but not inherited disease, which is unusual, and it's caused by mutations (new change) in the GNAS1 gene - the mutation to the DNA that occurs in the womb while the baby is developing.The abnormal gene is present in a fraction, but not all, of the cells according to the available info. I have this abnormal gene present in many of my cells so that if you were to look at a bone scan of me, head to toe, many of my bones would look similar to swiss cheese ~ it looks as if most of my bones have actual holes which is the areas where there isn't solid bone. This is a very simplistic idea but it gives you a basic understanding of the disease.MAS is a little confusing at first. It's called a syndrome, not a disease, meaning a variety of symptoms & conditions fall under its headingThe bone aspect of MAS is related to Fibrous Dysplasia(FD) a bone disease that destroys and replaces normal bone with fibrous bone tissue. One or more bones can be affected - in MAS more than one bone is affected.The symptoms of Fibrous Dysplasia include::Bone pain :Bone sores (lesions) :Difficulty walking :Endocrine gland problems :Fractures or bone deformities (rare) :Unusual skin color (pigmentation)There's no cure for FD, doctors simply treat bone fractures and deformities as appropriate.MAS includes FD and Symptoms & Signs:(See Medline Plus)Symptoms:The hallmark symptom of McCune-Albright syndrome is premature puberty in girls. Menstrual periods may begin in early childhood, long before the breasts or pubic hair develop (which normally occur first). Puberty and menstrual bleeding may begin as early as 4 - 6 months in girls ~ it actually can begin earlier:Early sexual development may also occur in boys, but it is not as common as it is in girls.:Other symptoms include::Bone fractures:Deformities of the bones in the face:Gigantism:Irregular, large patchy café-au-lait spots, especially on the backSigns and tests - why I think other symptoms in the body are impacted by MASA physical examination may show signs of::Abnormal bone growth in the skull:Abnormal heart rhythms :Acromegaly:Adrenal abnormalities:Gigantism:Hyperparathyroidism ~ the bones turn soft & become deformed, basically MAS!:Hyperthyroidism:Hypophosphatemia :Large café-au-lait spots on the skin:Liver disease, jaundice, fatty liver:Ovarian cysts :Pituitary or thyroid tumors:Scar-like tissue in the bone (fibrous dysplasia)There's no specific treatment for MAS. My bones, particularly the bones in my legs broke while I was growing up or bowed on their way to breaking and so I had many surgeries between the ages of 4 and 16 including scoliosis surgery. The surgeries stopped for a little while and then in my late 20s and early 30s I need some surgeries. I have had approximately 35 surgeries.I developed asthma when I was 8. My doctors think it has dissipated quite a bit but, because my bones are weak and I have scoliosis, the cavity in which my lungs sit is compromised. I have what they call Restrictive Lung Disease so I still have breathing problems. In 2003 I was diagnosed with Pulmonary Hypertension. The doctors don't think it's primary or secondary pulmonary hypertension but a hybrid possibly due to my other health problems and the medications I take. Around 1998 I began experiencing chronic daily pain in my limbs and ribs. Today there are few places in my body, bone areas, that I don't have pain. I experience pain regularly in some areas and in others I get flare-ups on a daily basis. So everyday is a surprise, pain-wise!The website I referenced above also includes a "Complications" category under which it lists::Blindness:Cosmetic problems from bone abnormalities:Deafness:Osteitis fibrosa cystica :Premature puberty:Repeated broken bones:Tumors of the bone (rare) ~ I'm not sure why it lists tumors of the bone as rare because if you have MAS tumors aren't rare ~ these tumors are not the same as those associated with cancer.The Fibrous Dysplasia Foundation, Inc. is a terrific website that gives a great explanation of MAS and FD and provides articles, resources, advocacy info and more.

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